Treatment of
Monogenic Diseases
Gene therapy is a promising approach
for both monogenic and complex diseases.
Monogenic Diseases: Single Gene Mutation Disease

Examples of Monogenic Diseases for Which Gene Therapy Approaches Are Being Studied
Summary
- Gene therapy is designed to address the root causes of genetic diseases8
- Strategies to treat monogenic diseases can be categorised as substrate- or protein-based and RNA- or DNA-based1,9
- Gene therapy approaches are being investigated in several monogenic diseases, including pulmonary disorders, blood disorders, neurodegenerative disorders, and neurologic disorders2,3,4,5,6,7
References
- Wang D, Gau G. Discov Med 2014;18:151–161.
- Ginn SL, et al. J Gene Med 2018;20(5):e3015.
- World Health Organization. Genes and human disease. Available at: https://www.who.int/genomics/public/geneticdiseases/en/index2.html. Accessed January 29, 2019.
- Worku D. Intern Med 2017;7:6.
- Prior TW. Genet Med >2010;12(3):145–152.
- Bosco DA. Nature Education 2015;8(3):4. Available at: https://www.nature.com/scitable/topicpage/the-role-of-sod1-in-amyotrophic-lateral-131764166. Accessed December 6, 2018.
- Liyanage VRB, Rastegar M. Neuromolecular Med 2014;16(2):231–264.
- NIH. How does gene therapy work? Available at: https://ghr.nlm.nih.gov/primer/therapy/procedures. Accessed January 29, 2019.
- Gambello MJ, Li H. J Genet Genomics 2018;45(2):61–70.
- Wang D, Gau G. Discov Med 2014;18:151–161.
- Ginn SL, et al. J Gene Med 2018;20(5):e3015.
- World Health Organization. Genes and human disease. Available at: https://www.who.int/genomics/public/geneticdiseases/en/index2.html. Accessed January 29, 2019.
- Worku D. Intern Med 2017;7:6.
- Prior TW. Genet Med >2010;12(3):145–152.
- Bosco DA. Nature Education 2015;8(3):4. Available at: https://www.nature.com/scitable/topicpage/the-role-of-sod1-in-amyotrophic-lateral-131764166. Accessed December 6, 2018.
- Liyanage VRB, Rastegar M. Neuromolecular Med 2014;16(2):231–264.
- NIH. How does gene therapy work? Available at: https://ghr.nlm.nih.gov/primer/therapy/procedures. Accessed January 29, 2019.
- Gambello MJ, Li H. J Genet Genomics2018;45(2):61–70.